Nijmegen breakage Syndrome - how much do we know about this rare condition of Slavs? - disease overview

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive defect of immunity, characterised by chromosomal instability and radiation sensitivity with a high predisposition to malignancy. The clinical manifestations of this condition include microcephaly, combined immunodeficiency, growth retardation and a range of additional abnormalities, including facial, skeletal and skin anomalies (such as café au lait spots and vitiligo). It is estimated that 40% of patients will develop cancer before reaching the age of 21 years. [1-2] The aetiology of this syndrome can be attributed to a mutation in the NBS1 gene, which is localised on chromosome 8q21 and is responsible for the production of the protein nibrin. [3] The most common mutation responsible for NBS (c.657_661del5) is consistent with a founder effect, with the majority of registered patients originating from Central and Eastern Europe and the largest cohort diagnosed in Poland. [4] This article provides an overview of Nijmegen breakage syndrome (NBS), including epidemiology, symptoms, diagnostic pathway and patient management, as well as treatment options. The objective of this study is to enhance awareness of this condition in order facilitate an early diagnosis and screening for malignancy in patients.